List of works - Magnus D Vigeland

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

scientific article published on 12 January 2016

A general approach to power calculation for relationship testing.

scientific article published on 28 June 2013

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

scientific article published on 12 March 2018

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

scientific article

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome

scientific article published on 01 October 2021

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

article

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

scientific article published on 27 September 2019

DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes

scientific article

Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'.

scientific article published on 12 August 2017

Evidence for adaptive evolution of low-temperature stress response genes in a Pooideae grass ancestor

scientific article published on 23 May 2013

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

scientific article published on 17 August 2016

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

scientific article published on 27 January 2016

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

scientific article

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

scientific article

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.

scientific article

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

scientific article published on 01 April 2019

Joint DNA-based disaster victim identification

scientific article published on 01 July 2021

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

scientific article published on 01 March 2015

Mitochondrial genome-wide association study of migraine - the HUNT Study

scientific article published on 14 February 2020

Mixtures with relatives and linked markers

scientific article published on 27 November 2015

Mixtures with relatives: a pedigree perspective

scientific article published on 31 January 2014

Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis

scientific article published on 30 December 2019

Novel UCHL1 mutations reveal new insights into ubiquitin processing

scientific article published on 22 December 2016

Novel UCHL1 mutations reveal new insights into ubiquitin processing

scientific article

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

scientific article

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

scientific article published on 14 October 2016

Relatedness coefficients in pedigrees with inbred founders

scientific article published on 08 June 2020

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

scientific article published on 27 July 2016

TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells

scientific article

The Atlantic salmon genome provides insights into rediploidization

scientific article

List of works by Magnus D Vigeland

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

A general approach to power calculation for relationship testing.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes

Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'.

Evidence for adaptive evolution of low-temperature stress response genes in a Pooideae grass ancestor

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

Joint DNA-based disaster victim identification

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

Mitochondrial genome-wide association study of migraine - the HUNT Study

Mixtures with relatives and linked markers

Mixtures with relatives: a pedigree perspective

Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Novel UCHL1 mutations reveal new insights into ubiquitin processing

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Relatedness coefficients in pedigrees with inbred founders

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells

The Atlantic salmon genome provides insights into rediploidization